A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219307



Internal ID20786347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117923620..118462956hg38UCSC Ensembl
chr8:118935859..119475195hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38539337
hg19539337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6422098
Supporting Variants
Samples
Known GenesEXT1, SAMD12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219307
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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